Level 3: Other hearing and ear disorders
Level 2: Hearing and ear disorders
Version 1.3
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review
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Not set
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Sources
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Version 3.12
Latest signed off version: v3.11
(1 May 2024)
Component of the following Super Panels:
Cardiac arrhythmias
Sudden unexplained death or survivors of a cardiac event
Unexplained death in infancy and sudden unexplained death in childhood
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review
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BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
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Sources
- North West GLH
- Emory Genetics Laboratory
- Long QT syndrome (Version 1.5)
Phenotypes
- Jervell and Lange-Nielsen syndrome 2, OMIM:612347
- Long QT syndrome 5, OMIM:613695
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Level 3: Cardiac arrhythmia
Level 2: Cardiovascular disorders
Version 3.8
Latest signed off version: v3.7
(1 May 2024)
Component of the following Super Panels:
Cardiac arrhythmias
Sudden unexplained death or survivors of a cardiac event
Unexplained death in infancy and sudden unexplained death in childhood
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review
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BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Emory Genetics Laboratory
- Expert list
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- Jervell and Lange-Nielsen syndrome 2, OMIM:612347
- Long QT syndrome 5, OMIM:613695
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Level 3: Cardiac arrhythmia
Level 2: Cardiovascular disorders
Version 4.6
Latest signed off version: v4.5
(1 May 2024)
Component of the following Super Panels:
Cardiac arrhythmias
Sudden unexplained death or survivors of a cardiac event
Unexplained death in infancy and sudden unexplained death in childhood
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- South West GLH
- Literature
Phenotypes
- catecholaminergic polymorphic ventricular tachycardia, MONDO:0017990
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Version 4.1
Latest signed off version: v4.0
(1 May 2024)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- PAGE DD-Gene2Phenotype
Phenotypes
- Jervell and Lange-Nielsen syndrome 2, OMIM:612347
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Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- DD-Gene2Phenotype
Phenotypes
- Jervell and Lange-Nielsen syndrome 2, OMIM:612347
- Long QT syndrome 5, OMIM:613695
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Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.41
Latest signed off version: v4.39
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Expert
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
Phenotypes
- Jervell and Lange-Nielsen syndrome 2, OMIM:612347
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.12
Latest signed off version: v6.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Jervell and Lange-Nielsen syndrome 2, OMIM:612347
- Long QT syndrome 5, OMIM:613695
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Version 1.184
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Long QT syndrome 5, 613695
- Jervell and Lange-Nielsen syndrome 2, 612347
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